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2S CYTOGEN > U5: CHROMOSOMAL ABERRATIONS + DELETION > Flashcards

U5: CHROMOSOMAL ABERRATIONS + DELETION Flashcards

1
Q

Tiny changes in the chromosome

A

Mutations

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2
Q

Structural or numerical change in the chromosome seen even in simple staining techniques

A

Aberrations

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3
Q

Test for copy number repeats or loss

A

CGH

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4
Q

There are variations from the wild-type condition in either chromosome structure or chromosome number

A

Chromosomal aberrations

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5
Q

This mechanism is seen when genes are inherited only from the mother.

A

Genomic imprinting

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6
Q

Special form of duplication seen in Huntington’s Disease.

A

Expansion of trinucleotide repeats

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7
Q

Variation in Chromosome Structure

A

Deletion
Duplication
Inversion
Translocation

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8
Q

Three broad categories of chromosome mutations

A

Chromosome Rearrangements
Aneuploidy
Polyploidy

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9
Q

Overall chromosome number is unaffected, but large pieces of chromosomes move

A

Chromosome Rearrangements

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10
Q

Trisomy 21, Klinefelter’s Syndrome, Turner’s Syndrome

A

Aneuploidy

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10
Q

These mutations alter chromosome structure

A

Chromosome Rearrangements

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11
Q

One or more individual chromosome pair has its number altered (either add or subtract)

A

Aneuploidy

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12
Q

One or more complete chromosome sets are added

A

Polyploidy

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13
Q

3n, 4n

A

Polyploidy

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14
Q

T/F: Aneuploidies present as one or more of the chromosomes in the pair.

A

True

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15
Q

In what phase do aneuploidies occur?

A

Meiosis

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16
Q

This refers to a pair of homologous chromosomes that has failed to separate or segregate at anaphase so both chromosomes of the pair pass to the same daughter cell.

A

Nondisjunction

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17
Q

This refers to chromosomes which does not properly separate, leaving one or two sex cells with an extra chromosome or with one less chromosome.

A

Nondisjunction

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18
Q

This can occur after nondisjunction during the mitotic cell division.

A

Mosaicism

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19
Q

Chromosomal disorders caused by this results in one line of cells with a chromosomal aberration while other lines may stay unchanged.

A

Mosaicism

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20
Q

T/F: Egg with monosomic conditions do not proceed to further fertilization.

A

True

pag trisomy daw pwede pa

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21
Q

2n + 1 = 7

A

Aneuploidy (Trisomy)

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22
Q

3n = 9

A

Polyploidy (Autotriploid) / Triploidy

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23
Q

2n = 6

A

Chromosome rearrangement (duplication)

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24
Q

Where can triploidies be found?

A

Plants

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25
Q

Chromosomal mutation that results in the doubling of a segment of a chromosome

A

Duplication

may nadadagdag lang

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26
Q

2n = 6

A

Chromosome rearrangement (Duplication)

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27
Q

Forms of Duplication

A

Tandem
Reverse
Terminal Tandem

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28
Q

This duplication is observed with the repeats in Huntington’s Disease.

A

Tandem Duplication

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29
Q

This duplication is observed with inversed sequences.

A

Reverse Duplication

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30
Q

This duplication is observed in the tips.

A

Terminal Tandem Duplication

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31
Q

Unbalanced set of chromosomes, relative gene dosage is upset

A

Aneuploidy

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32
Q

Loss of a single chromosome copy

A

Monosomic

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33
Q

Extra copies of single chromosome

A

Polysomic

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34
Q

T/F: Most chromosome abnormalities are lethal, frequently in spontaneous abortions.

A

True

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35
Q

Exceptions of Lethal Chromosome Abnormalities

A

Trisomy 13, 18, 21, and Sex Chromosomes

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36
Q

T/F: An extra X or Y chromosome usually has a relatively severe effect.

A

False

mild effect

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37
Q

Mild effect of extra sex chromosome

A

1) X chromosome inactivation/Dosage Compensation
2) Not much (essential) on the Y

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38
Q

Part of a chromosome present twice

A

Duplication

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39
Q

ISCN stands for?

A

International System for Human Cytogenomic Nomenclature

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40
Q

Abbreviations: dup

A

Duplication

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41
Q

dup(17p12)

A

Charcot-Marie-Tooth type 1A

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42
Q

FORMATIVE: Symptoms of Charcot-Marie-Tooth Disease

A
  • Hammertoes
  • Muscle Weakness
  • Foot Drop
  • Paralysis
  • Numbness or tingling
  • Creeping sensation in the legs
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43
Q

Duplication that is one right after the other

A

Tandem duplication

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44
Q

Duplication that is repeated in another part of the chromosome (self explanatory daw)

A

Displaced Duplication

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45
Q

ABEFCD EFGH

A

Displaced duplication

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45
Q

ABCD EFEFGH

A

Tandem duplication

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46
Q

ABCD FEEFGH

A

Reverse duplication

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47
Q

T/F: Individuals can be homozygous or heterozygous for duplications, it can happen only on one or both sister chromatids.

A

True

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48
Q

Worst form of duplication

A

Homozygosity

consider dosage = more or lesser effect

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49
Q

The more or less there is will reflect on expression of phenotype

A

Dosage

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50
Q

Significant effects on an individual’s phenotype is due to?

A

Unbalanced Gene Dosage

dapat di ka double dosage haha

51
Q

In what phase of Meiosis does duplication arise in heterozygotes?

A

Prophase I and Synapsis

52
Q

T/F: The duplicated region in Meiosis must loop out for synapsis to occur.

A

True

pag di nag loop, matatanggal yung region = loss of chromosomal content

53
Q

Position Effect of Eye Size in Drosophilia

A

Duplication

54
Q

T/F: 99% of duplications are often bad, and 1% of duplications allow evolution to proceed forward.

A

True

55
Q

The process in which fetal hemoglobin was allowed to evolve.

A

in utero reproduction

56
Q

easter egg!!

pag sinira m yng protein coding gene…

A

patay Ka!

  • ian, 2024

duplicated genes lang ang paglaruan moh

57
Q

T/F: Fetal hemoglobin is a result of duplication.

A

True

58
Q

T/F: Fetus will still survive even if it shares a blood supply with the mother (adult hemoglobin.)

A

False

all hemoglobin (oxygen) will go straight to the mother since it is adult hemoglobin

59
Q

Duplication result of extra #12 chromosome or usually a mixture of cells (mosaicism)

A

Pallister Killian Syndrome

60
Q

Symptoms of Pallister Killian Syndrome

A
  • Severe intellectual disability
  • Poor muscle tone
  • “Coarse” facial features
  • Prominent forehead
61
Q

T/F: People with Pallister Killian have a shortened lifespan, but may live up to their 40s.

A

True

62
Q

Duplication of a small piece of Chromosome 17 in each cell

A

Potocki-Lupski syndrome

63
Q

17p11.2

A

Potocki-Lupski syndrome

64
Q

About 40% of babies with Potocki-Lupski present with?

A

heart defects

64
Q

Symptoms of Potocki-Lupski

A
  • hypotonia (weak muscle tone)
  • dysphagia (swallowing difficulties)
  • does not grow and gain weight
65
Q

Multiple duplications/microdeletions of a CGG segment in the 5’ untranslated region of the FMR1 gene on X chromosome.

A

Fragile X Syndrome

66
Q

Xq27

A

Fragile X Syndrome

67
Q

Syndrome with repeated trinucleotide segments and express penetrance

A

Fragile X Syndrome

68
Q

6-40 repetitions

A

Weak Form

69
Q

41-60 repetitions

A

Middle Form

70
Q

61-200 repetitions

A

Strong Form

71
Q

> 200 repetitions

A

Full mutation/penetrance

72
Q

T/F: The deleted segment in deletions can be located anywhere in the chromosome.

A

True

73
Q

T/F: Fragile X Syndrome affects more women than men.

A

False

mas severe kay man kasi isa lang X nya

74
Q

Symptoms of Fragile X Syndrome

A
  • inherited mental retardation
  • prognathism (small and long face, large ears)
75
Q

Loss of segment of a chromosome

A

Deletion

76
Q

How does deletion start?

A

Chromosomal breakage

77
Q

Causes of Chromosomal Breakage

A
  • Heat
  • Ionizing radiation
  • Viruses
  • Transposable elements
  • Errors in recombination
78
Q

Examples of ionizing / high energy radiation

A

UV, X-ray, cosmic rays

79
Q

These cause oncogenic or cancer cells.

A

Viruses

80
Q

These are also known as jumping genes.

A

Transposable Elements

81
Q

T/F: Deletion that spans the centromere causes a more fatal effect due to the chromosome being acentric.

A

True

82
Q

Deletion that occurs towards the end of a chromosome

A

Terminal deletion

83
Q

T/F: Deletion in the telomeric region does not affect gene expression.

A

True

pag may nasama from subtelomeric = incompatible na of life

84
Q

Deletion that occurs from or in the interior of a chromosome.

A

Intercalary / Interstitial Deletion

85
Q

Relatively small amount of deletion (up to 5mb that could include a dozen genes)

A

Microdeletion

86
Q

Deletion that is most common cause of disease

A

Microdeletion

other deletions are large enough = incompatible of life

87
Q

Deletion that is usually found in children with physical abnormalities

A

Microdeletion

88
Q

T/F: Large deletions can be detected in karyotype as a shortened chromosome.

A

True

89
Q

Centromeric deletion

A

No segregation during cell division

90
Q

T/F: Recessive alleles express more readily when there are deletions.

A

True

no counteracting mechanism if deleted ang dominant gene

91
Q

Abbreviations: -

A

Chromosome Deletions

92
Q

Abbreviations: Δ (delta)

A

Microdeletions

93
Q

Abbreviations: del

A

Deletions of Chromosome Parts

94
Q

Deletion of number of pairs that is not evenly divisible by three

A

Frameshift mutation

95
Q

Deletion that is evenly divisible by three

A

In-frame deletion

96
Q

Genetic disorders from Deletions

A
  • Male infertility
  • Duchenne Muscular Dystrophy
  • Cystic Fibrosis
  • DiGeorge Syndrome
97
Q

Deletions in SMN-encoding gene, and the most common genetic cause of infant death

A

Spinal Muscular Atrophy

98
Q

Syndromes associated with both microdeletions and genomic imprinting

A
  • Angelman syndrome
  • Prader-Willi syndrome
99
Q

5p-

A

Cri-du-chat Syndrome

100
Q

Also known as “cry of the cat”, severe mental retardation

A

Cri-du-chat Syndrome

101
Q

11q-

A

Wilms tumor

102
Q

Kidney tumors, genitals and urinary tract abnormalities

A

Wilms tumor

103
Q

13q-

A

Retinoblastoma

104
Q

Cancer of the eye, increased risk of other cancers

A

Retinoblastoma

105
Q

15q-

A

Prader-Willi Syndrome

106
Q

Weak slow growth in infants, Obesity or compulsive eating in children and adults

A

Prader-Willi Syndrome

107
Q

ΔF508

A

Cystic Fibrosis

coding for Phenylalanine

108
Q

T/F: Patients with cri-du-chat die on their first year of life or in early stages of life.

A

True

109
Q

CLL stands for?

A

Chronic Lymphocytic Leukemia

110
Q

-13q14

A

Chronic Lymphocytic Leukemia

111
Q

Prader-Willi: What bands of Chromosome 15 are deleted in the long arm?

A

q11 and q13

112
Q

Loss of OCA2 gene in Chromosome 15

A

Angelman syndrome

113
Q

Have happy or excitable personalities, causes delayed development, intellectual disability and seizures (more on Maternal)

A

Angelman syndrome

114
Q

2/3 deletion type

A

Duchenne Muscular Dystrophy

115
Q

Change in sequence of codons and render the protein is abnormal

A

Frameshift mutation

116
Q

T/F: Even if you do not delete protein coding genes, it might still have an effect since there is a possibility that it is a region that codes for transcription factors.

A

True

117
Q

Expected to be alive at least 5 years after diagnosis

A

Wilms Tumor

118
Q

This significantly influence the prognosis of disease

A

Type, Size, Location of Deletion

119
Q

Also a product of the deletion of Retinoblastoma protein

A

Chronic Lymphocytic Leukemia (CLL)

120
Q

Accumulation of B lymphocytes, increased abnormal antibodies

A

Chronic Lymphocytic Leukemia (CLL)

121
Q

What makes B cells immortal?

A

Loss of apoptopic factors

122
Q

This syndrome has no cure, and requires constant treatment.

A

Angelman syndrome

123
Q

This is also related to Albinism.

A

OCA2 gene

124
Q

This refers to when both alleles come from either maternal or paternal.

A

Uniparental disomy

125
Q

More maternal syndrome

A

Angelman syndrome

126
Q

More paternal syndrome

A

Prader-Willi Syndrome

2S CYTOGEN (16 decks)

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